Results 41 to 50 of about 3,769 (195)

Dysferlin interacts with histone deacetylase 6 and increases alpha-tubulin acetylation. [PDF]

PLoS ONE, 2011
Dysferlin is a multi-C2 domain transmembrane protein involved in a plethora of cellular functions, most notably in skeletal muscle membrane repair, but also in myogenesis, cellular adhesion and intercellular calcium signaling.
Sabrina Di Fulvio, Bilal A Azakir, Christian Therrien, Michael Sinnreich   +3 more
doaj   +1 more source

FER-1/Dysferlin promotes cholinergic signaling at the neuromuscular junction in C. elegans and mice

Biology Open, 2013
Summary Dysferlin is a member of the evolutionarily conserved ferlin gene family. Mutations in Dysferlin lead to Limb Girdle Muscular Dystrophy 2B (LGMD2B), an inherited, progressive and incurable muscle disorder.
Predrag Krajacic, Emidio E. Pistilli, Jessica E. Tanis, Tejvir S. Khurana, S. Todd Lamitina   +4 more
doaj   +1 more source

Abnormal Expression of Dysferlin in Blood Monocytes Supports Primary Dysferlinopathy in Patients Confirmed by Genetic Analyses

Frontiers in Neurology, 2021
Objective: Dysferlin deficiency causes dysferlinopathy. This study aimed to expand the mutational spectrum of dysferlinopathies, to further study one case with diagnostic ambiguity, and to identify the diagnostic value of dysferlin expression in total ...
Huili Zhang, Yaqin Li, Qiusheng Cheng, Xi Chen, Qiuxia Yu, Ze Li   +5 more
doaj   +1 more source

Lack of correlation between outcomes of membrane repair assay and correction of dystrophic changes in experimental therapeutic strategy in dysferlinopathy.

PLoS ONE, 2012
Mutations in the dysferlin gene are the cause of Limb-girdle Muscular Dystrophy type 2B and Miyoshi Myopathy. The dysferlin protein has been implicated in sarcolemmal resealing, leading to the idea that the pathophysiology of dysferlin deficiencies is ...
William Lostal, Marc Bartoli, Carinne Roudaut, Nathalie Bourg, Martin Krahn, Marina Pryadkina, Perrine Borel, Laurence Suel, Joseph A Roche, Daniel Stockholm, Robert J Bloch, Nicolas Levy, Rumaisa Bashir, Isabelle Richard   +13 more
doaj   +1 more source

Dysferlin and Animal Models for Dysferlinopathy

Journal of Toxicologic Pathology, 2012
Dysferlin (DYSF) is involved in the membrane-repair process, in the intracellular vesicle system and in T-tubule development in skeletal muscle. It interacts with mitsugumin 53, annexins, caveolin-3, AHNAK, affixin, S100A10, calpain-3, tubulin and dihydropyridine receptor.
Kobayashi, Kinji, Izawa, Takeshi, Kuwamura, Mitsuru, Yamate, Jyoji   +3 more
openaire   +3 more sources

Expression of myoferlin in human airway epithelium and its role in cell adhesion and zonula occludens-1 expression. [PDF]

PLoS ONE, 2012
Normal airway epithelial barrier function is maintained by cell-cell contacts which require the translocation of adhesion proteins at the cell surface, through membrane vesicle trafficking and fusion events.
Cleo Leung, Furquan Shaheen, Pascal Bernatchez, Tillie-Louise Hackett   +3 more
doaj   +1 more source

Characterisation of the dysferlin skeletal muscle promoter [PDF]

European Journal of Human Genetics, 2003
Deficiency of the skeletal muscle membrane protein dysferlin causes the related and overlapping neuromuscular disorders limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy. This paper describes the preliminary characterisation of the human dysferlin promoter. The transcriptional start site of dysferlin has been mapped using 5' RACE PCR,
Foxton RM, Laval SH, Bushby KMD
openaire   +3 more sources

Myopathy With Exercise-Induced Intolerance due to Novel Biallelic Variants in OBSCN-A Clinical, Morphological and Molecular Analysis. [PDF]

Neuropathol Appl Neurobiol
The phenotype of OBSCN variants consists of exercise intolerance ranging from myalgia and cramps to rhabdomyolysis. Symptoms are mainly induced by high‐intensity sports. Molecular analysis showing a deregulation of muscle processes associated with Ca2+ regulation, extrasarcolemmal integrity and autophagy emphasised the critical role of obscurin in ...
Krämer-Best HH, Reis MC, Hentschel A, Weiß M, Schaiter A, Böhm KD, Roos A, Nolte D, Schänzer A.   +8 more
europepmc   +2 more sources

609. Systemic Delivery of Dysferlin Overlap Vectors Mediates Functional Recovery of Dysferlin Deficiency [PDF]

Molecular Therapy, 2015
Dysferlinopathies comprise a family of disorders caused by mutations in the dysferlin (DYSF) gene leading to absent or mutant protein. Dysferlin protein has been implicated in multiple functional roles specifically in membrane stabilization/repair, t-tubule formation and vesicle trafficking.
Sondergaard, Patricia C., Griffin, Danielle A., Pozsgai, Eric R., Johnson, Ryan, Shontz, Kim, Mendell, Jerry R., Rodmo-Klapac, Louise R.   +6 more
openaire   +1 more source

Treatment with galectin-1 improves myogenic potential and membrane repair in dysferlin-deficient models.

PLoS ONE, 2020
Limb-girdle muscular dystrophy type 2B (LGMD2B) is caused by mutations in the dysferlin gene, resulting in non-functional dysferlin, a key protein found in muscle membrane.
Mary L Vallecillo-Zúniga, Matthew F Rathgeber, P Daniel Poulson, Spencer Hayes, Jacob S Luddington, Hailie N Gill, Matthew Teynor, Braden C Kartchner, Jonard Valdoz, Caleb Stowell, Ashley R Markham, Connie Arthur, Sean Stowell, Pam M Van Ry   +13 more
doaj   +1 more source